فوز جامعة المنصورة ب 6 من جوائز الدولة للعلوم وضم "جائزة الرواد" لجوائز الدولة
رنا كامل منصورة نيوز : 27 - 06 - 2012
فازت جامعة المنصورة برئاسة الدكتور السيد عبد الخالق ب 6 جوائز من جوائز الدولة للعلوم لهذا العام , حيث فاز بجائزة الدولة التشجيعية فى مجال العلوم الطبية الدكتور عاصم على إسماعيل شلبى المدرس بكلية الطب جامعة المنصورة مناصفة مع الدكتور محمد سعيد عبد العزيز محمد ثابت الأستاذ المساعد بكلية الطب جامعة القاهرة ، وفى مجال العلوم الكيميائية فاز الدكتور إبراهيم محمد الشربينى عبد الحليم الأستاذ المساعد بكلية العلوم جامعة المنصورة.
وبالنسبة لجوائز الأفراد والهيئات منحت جائزة الدكتور مدحت عبدالهادى فى بحوث أمراض الدواجن مناصفة بين كل من الدكتورة سناء سلامة أحمد عوض الأستاذ المساعد بكلية الطب البيطرى جامعة المنصورة والدكتورة وفاء عبد الغنى الأستاذ المساعد بكلية الطب البيطرى بجامعة القاهرة.
وفى مجال العلوم الطبية منحت جائزة المنصورة الطبية فى مجال أمراض الكلى والمسالك البولية مناصفة بين كل من الدكتور محمد إبراهيم عبد الحميد أبو الغار الاستشاري المساعد بمركز أمراض الكلى والمسالك البولية بجامعة المنصورة , والدكتور حسين محمد عطية الأستاذ المساعد بنفس المركز.
ومنحت جائزة المرحوم الدكتور محمد فخرى مكاوى الطبية فى مجال طب الأطفال مناصفة بين كل من الأستاذ الدكتور محمد محمد صالح الحجار الأستاذ بكلية الطب جامعة المنصورة , والدكتورة نانسى سمير محمد احمد البربرى المدرس بكلية الطب جامعة عين شمس.
Wednesday, June 27, 2012
Thursday, May 3, 2012
A novel homozygous p.Arg527Leu LMNA mutation in two unrelated Egyptian families causes overlapping mandibuloacral dysplasia and progeria syndrome
Mandibuloacral dysplasia (MAD) is a rare disease resulting from a mutation of LMNA gene encoding lamins A and C. The most common mutation associated with this disease is a homozygous arginine 527 replacement by histidine. Three female patients originating from two unrelated families from Northeast Egypt were examined. Their growth was retarded; they had microcephaly, widened cranial sutures, prominent eyes and cheeks, micrognathia, dental crowding, hypoplastic mandible, acro-osteolysis of distal phalanges, and joint contractures. In addition, they presented some progeroid features, such as pinched nose, premature loss of teeth, loss of hair, scleroderma-like skin atrophy, spine rigidity, and waddling gait. The clinical presentation of the disease varied between the patient originating from Family 1 and patients from Family 2, suggesting that unknown, possibly epigenetic factors, modify the course of the disease. The first symptoms of the disease appeared at the age of 2.5 (a girl from Family 1), 5, and 3 years (girls from Family 2). All patients had the same, novel homozygous c.1580G4T LMNA mutation, resulting in the replacement of arginine 527 by leucine. Computational predictions of such substitution effects suggested that it might alter protein stability and increase the tendency for protein aggregation, and as a result, might influence its interaction with other proteins. In addition, restriction fragment-length polymorphism analysis performed in 178 unrelated individuals showed that up to 1.12% of inhabitants of Northeast Egypt might be heterozygous carriers of this mutation, suggesting the presence of a founder effect in this area.
European Journal of Human Genetics (2012) 0, 000–000. doi:10.1038/ejhg.2012.77
Mohammad Al-Haggar, Agnieszka Madej-Pilarczyk, Lukasz Kozlowski, Janusz M Bujnicki, Sohier Yahia, Dina Abdel-Hadi, Amany Shams, Nermin Ahmad, Sahar Hamed and
Monika Puzianowska-Kuznicka
European Journal of Human Genetics (2012) 0, 000–000. doi:10.1038/ejhg.2012.77
Mohammad Al-Haggar, Agnieszka Madej-Pilarczyk, Lukasz Kozlowski, Janusz M Bujnicki, Sohier Yahia, Dina Abdel-Hadi, Amany Shams, Nermin Ahmad, Sahar Hamed and
Monika Puzianowska-Kuznicka
Cardiomyopathy and angiogenesis defects of Wistar rat fetuses of diabetic and hypercholesterolemic mothers
A b s t r a c t
Objective: We aimed to illustrate the histogenesis, lactic dehydrogenase isoenzymes electrophoresis, and DNA damage of cardiac muscles and blood vessels during prenatal life of maternal diabetic or hypercholesterolemic mother.
Methods: Eighty fertile male and virgin female Wistar rats (1 male/3 females), weighing approximately 130 g, were mated and zero date of gestation was determined. Diabetes was induced at the fifth day of gestation by intraperitoneal injection of a single dose of 60 mg streptozotocin/kg body weight in citrate buffer, pH 4.6. At the same time, hypercholesterolemia was carried out by feeding virgin rats a diet containing 3% cholesterol for 6 wk before the onset of conception. Pregnant rats were arranged into three groups: control, diabetic, and hypercholesterolemic (n = 20). The animals were sacrificed and embryos were separated at 7-, 13-, 15-, 17-, and 19 d old, respectively, and subjected to light and transmission electron microscopy, lactic dehydrogenases isoenzymes electrophoresis, DNA fragmentation, and comet assay. The sera of the mothers were examined for fasting glucose level, total cholesterol, triglycerides, low-density lipoprotein, high-density lipoprotein, and creatine phosphokinase levels.
Results: Diabetic and hypercholesterolemic mothers exhibited a significant increase of sera cholesterol level, low-density lipoprotein, and creatine phosphokinase activity. Histologic findings of embryos of diabetic and hypercholesterolemic mothers revealed cardiomyopathy and malformation of blood vessels with an apparent degeneration of their endothelium. Transmission electron microscopy possessed massive necrosis of muscle fibers, disorganization of Z and I bands, and mitochondrial damage. Lactic dehydrogenase isoenzyme electrophoresis was altered and genomic DNA fragmentation was markedly increased.
Conclusion: Maternal diabetes or hypercholesterolemia led to marked alterations in blood vessel differentiation as well as to cardiomyopathy during prenatal growth as assessed by the disruption of fine structures, abnormal lactic dehydrogenase isoenzymes electrophoresis, and an increase of DNA damage. These may be attributed to the marked oxidative stress and liberation of free oxygen radicals, which interrupted the myocardium structure and function during organogenesis.
Nutrition, 20 April, 2012, PMID: 22521615 [PubMed - as supplied by publisher]
Objective: We aimed to illustrate the histogenesis, lactic dehydrogenase isoenzymes electrophoresis, and DNA damage of cardiac muscles and blood vessels during prenatal life of maternal diabetic or hypercholesterolemic mother.
Methods: Eighty fertile male and virgin female Wistar rats (1 male/3 females), weighing approximately 130 g, were mated and zero date of gestation was determined. Diabetes was induced at the fifth day of gestation by intraperitoneal injection of a single dose of 60 mg streptozotocin/kg body weight in citrate buffer, pH 4.6. At the same time, hypercholesterolemia was carried out by feeding virgin rats a diet containing 3% cholesterol for 6 wk before the onset of conception. Pregnant rats were arranged into three groups: control, diabetic, and hypercholesterolemic (n = 20). The animals were sacrificed and embryos were separated at 7-, 13-, 15-, 17-, and 19 d old, respectively, and subjected to light and transmission electron microscopy, lactic dehydrogenases isoenzymes electrophoresis, DNA fragmentation, and comet assay. The sera of the mothers were examined for fasting glucose level, total cholesterol, triglycerides, low-density lipoprotein, high-density lipoprotein, and creatine phosphokinase levels.
Results: Diabetic and hypercholesterolemic mothers exhibited a significant increase of sera cholesterol level, low-density lipoprotein, and creatine phosphokinase activity. Histologic findings of embryos of diabetic and hypercholesterolemic mothers revealed cardiomyopathy and malformation of blood vessels with an apparent degeneration of their endothelium. Transmission electron microscopy possessed massive necrosis of muscle fibers, disorganization of Z and I bands, and mitochondrial damage. Lactic dehydrogenase isoenzyme electrophoresis was altered and genomic DNA fragmentation was markedly increased.
Conclusion: Maternal diabetes or hypercholesterolemia led to marked alterations in blood vessel differentiation as well as to cardiomyopathy during prenatal growth as assessed by the disruption of fine structures, abnormal lactic dehydrogenase isoenzymes electrophoresis, and an increase of DNA damage. These may be attributed to the marked oxidative stress and liberation of free oxygen radicals, which interrupted the myocardium structure and function during organogenesis.
Nutrition, 20 April, 2012, PMID: 22521615 [PubMed - as supplied by publisher]
Saturday, March 3, 2012
Sirenomelia (symelia apus) with Potter's syndrome in connection with gestational diabetes mellitus: a case report and literature review.
Abstract
We report one case of a fetus of sirenomelia sequence with Potters syndrome which showed oligohydramnios and symelia apus. The infant showed absent urinary tract and external genitalia, the legs were fused by skin and had separate bones associated with Potter's syndrome. The mother had a history of gestational diabetes mellitus.
Afr Health Sci. 2010 Dec;10(4):395-9.
We report one case of a fetus of sirenomelia sequence with Potters syndrome which showed oligohydramnios and symelia apus. The infant showed absent urinary tract and external genitalia, the legs were fused by skin and had separate bones associated with Potter's syndrome. The mother had a history of gestational diabetes mellitus.
Afr Health Sci. 2010 Dec;10(4):395-9.
Mutation analysis of the GLUT2 gene in three unrelated Egyptian families with Fanconi–Bickel syndrome: revisited gene atlas for renumbering.
Background Fanconi–Bickel syndrome (FBS) is an autosomal recessive disorder caused by defects in the facilitative glucose transporter 2 (GLUT2 or SLC2A2) gene which codes for the glucose transporter protein 2 expressed in hepatocytes and renal tubular cells causing a defect in carbohydrate metabolism, hepatomegaly, severe hypophosphatemic rickets and failure to thrive.
Subjects and methods Among 17 unrelated Egyptian families with heritable renal tubular acidosis, three families clinically suspected as FBS were enrolled for this study after providing written informed consent. The three families had positive consanguinity and index cases with
characteristic clinical features of FBS (hepatorenal glycogen accumulation, glucose and galactose intolerance, fasting hypoglycemia, a characteristic tubular nephropathy). Laboratory work-up included urinalysis, renal and liver function tests, fasting and postprandial blood sugar, serum calcium, phosphorus, alkaline phosphatase, sodium and potassium, lipid profile and arterial blood gas analysis. Imaging studies included bone survey and abdominal ultrasound. Liver biopsy was performed to confirm pathological diagnosis of the liver enlargement. Molecular analysis was performed for all family members—polymerase chain reaction followed by direct sequencing of the coding segments as well as the flanking introns.
Results Three different mutations were detected, one specific for each family, including two new mutations. In the first family, exon 3, two bases (GA) were deleted (c.253_254delGA causing a frameshift mutation (p. Glu85fs); the patient presented with early symptoms but unfortunately died despite adequate treatment. In the second family, a mutation was found in exon 6, in the splicing acceptor site with intron 5 (c.776-1G>C or IVS5-1G>A). The third family showed a missense mutation C-to-T substitution at c.1250 (c.1250C[T) causing change of codon 417 (CCG) for proline to CTG for leucine (p. P417L); this is a well-known mutation in the Arab population previously localized in exon 9; however, it is currently renumbered to exon 10.
Conclusion Neither the new mutations nor the reported one were particularly more frequent; however, the third mutation (c.1250C[T) needs more attention in survey studies especially if performed in Arab patients as it has been renumbered because of the ‘change’ of gene structure since the initial reports
Subjects and methods Among 17 unrelated Egyptian families with heritable renal tubular acidosis, three families clinically suspected as FBS were enrolled for this study after providing written informed consent. The three families had positive consanguinity and index cases with
characteristic clinical features of FBS (hepatorenal glycogen accumulation, glucose and galactose intolerance, fasting hypoglycemia, a characteristic tubular nephropathy). Laboratory work-up included urinalysis, renal and liver function tests, fasting and postprandial blood sugar, serum calcium, phosphorus, alkaline phosphatase, sodium and potassium, lipid profile and arterial blood gas analysis. Imaging studies included bone survey and abdominal ultrasound. Liver biopsy was performed to confirm pathological diagnosis of the liver enlargement. Molecular analysis was performed for all family members—polymerase chain reaction followed by direct sequencing of the coding segments as well as the flanking introns.
Results Three different mutations were detected, one specific for each family, including two new mutations. In the first family, exon 3, two bases (GA) were deleted (c.253_254delGA causing a frameshift mutation (p. Glu85fs); the patient presented with early symptoms but unfortunately died despite adequate treatment. In the second family, a mutation was found in exon 6, in the splicing acceptor site with intron 5 (c.776-1G>C or IVS5-1G>A). The third family showed a missense mutation C-to-T substitution at c.1250 (c.1250C[T) causing change of codon 417 (CCG) for proline to CTG for leucine (p. P417L); this is a well-known mutation in the Arab population previously localized in exon 9; however, it is currently renumbered to exon 10.
Conclusion Neither the new mutations nor the reported one were particularly more frequent; however, the third mutation (c.1250C[T) needs more attention in survey studies especially if performed in Arab patients as it has been renumbered because of the ‘change’ of gene structure since the initial reports
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